Variant report

Variant	nsv557008
Chromosome Location	chr12:2162576-2165147
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:57)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:57 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr12:2162549-2163090	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr12:2163334-2163648	H1-hESC	embryonic stem cell:	n/a	n/a
3	CHD1	chr12:2161887-2163860	IMR90	lung:	n/a	chr12:2163531-2163541
4	CHD2	chr12:2162989-2163002	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTBP2	chr12:2162257-2163679	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr12:2163661-2163684	ProgFib	skin:	n/a	n/a
7	CTCF	chr12:2163440-2163590	HAc	cerebellar:	n/a	n/a
8	CTCF	chr12:2161859-2163889	SK-N-SH	brain:	n/a	chr12:2163319-2163332
9	CTCF	chr12:2162540-2162690	AG04449	skin:	n/a	n/a
10	CTCF	chr12:2163560-2163710	AG10803	skin:	n/a	n/a
11	CTCF	chr12:2163580-2163730	NHLF	lung:	n/a	n/a
12	CTCF	chr12:2163600-2163750	HCM	heart:	n/a	n/a
13	CTCF	chr12:2162480-2162630	HAc	cerebellar:	n/a	n/a
14	CTCF	chr12:2163580-2163730	AG09319	gingival:	n/a	n/a
15	CTCF	chr12:2163540-2163690	WERI-Rb-1	eye:	n/a	n/a
16	CTCF	chr12:2162440-2162590	SK-N-SH_RA	brain:	n/a	n/a
17	CTCF	chr12:2163620-2163770	HEK293	kidney:	n/a	n/a
18	CTCF	chr12:2162894-2163125	IMR90	lung:	n/a	n/a
19	CTCF	chr12:2162620-2162770	AG04450	lung:	n/a	n/a
20	CTCF	chr12:2163560-2163710	AG09309	skin:	n/a	n/a
21	CTCF	chr12:2163600-2163750	AG09319	gingival:	n/a	n/a
22	CTCF	chr12:2163640-2163790	BJ	skin:	n/a	n/a
23	CTCF	chr12:2162480-2162630	HBMEC	blood vessel:	n/a	n/a
24	CTCF	chr12:2163640-2163790	AoAF	blood vessel:	n/a	n/a
25	CTCF	chr12:2163480-2163630	SK-N-SH_RA	brain:	n/a	n/a
26	CTCF	chr12:2163680-2163830	NHDF-neo	bronchial:	n/a	n/a
27	CTCF	chr12:2163606-2163708	Fibrobl	skin:	n/a	n/a
28	CTCF	chr12:2163560-2163710	HCPEpiC	choroid plexus:	n/a	n/a
29	CTCF	chr12:2163620-2163770	AG04449	skin:	n/a	n/a
30	CTCF	chr12:2163800-2163950	AoAF	blood vessel:	n/a	n/a
31	CTCF	chr12:2162860-2163010	SK-N-SH_RA	brain:	n/a	n/a
32	CTCF	chr12:2163560-2163710	SK-N-SH_RA	brain:	n/a	n/a
33	CTCF	chr12:2162440-2162590	HMF	breast:	n/a	n/a
34	CTCF	chr12:2162920-2163070	AG09319	gingival:	n/a	n/a
35	CTCF	chr12:2163620-2163770	HAc	cerebellar:	n/a	n/a
36	CTCF	chr12:2162600-2162750	BJ	skin:	n/a	n/a
37	CTCF	chr12:2162920-2163070	AG04449	skin:	n/a	n/a
38	E2F6	chr12:2162797-2163160	H1-hESC	embryonic stem cell:	n/a	chr12:2163070-2163080
39	E2F6	chr12:2162865-2163148	H1-hESC	embryonic stem cell:	n/a	chr12:2163070-2163080
40	MAX	chr12:2162881-2163243	H1-hESC	embryonic stem cell:	n/a	n/a
41	MAZ	chr12:2160983-2164136	IMR90	lung:	n/a	chr12:2163471-2163480 chr12:2161824-2161834 chr12:2161365-2161378 chr12:2161367-2161376 chr12:2161366-2161377 chr12:2161365-2161378 chr12:2161367-2161377 chr12:2161367-2161374 chr12:2162790-2162800 chr12:2161365-2161380 chr12:2161366-2161377
42	MXI1	chr12:2160712-2163895	IMR90	lung:	n/a	n/a
43	MXI1	chr12:2160965-2164424	SK-N-SH	brain:	n/a	n/a
44	MYC	chr12:2164699-2164793	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr12:2163224-2163827	H1-neurons	neurons:	n/a	n/a
46	POLR2A	chr12:2163164-2163819	H1-neurons	neurons:	n/a	n/a
47	POLR2A	chr12:2161826-2162733	H1-neurons	neurons:	n/a	n/a
48	POLR2A	chr12:2162076-2162851	IMR90	lung:	n/a	n/a
49	POLR2A	chr12:2161183-2162714	H1-neurons	neurons:	n/a	n/a
50	POLR2A	chr12:2163549-2163645	ProgFib	skin:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:2163608-2163658	GM12878	blood:	n/a
2	chr12:2163532-2163582	HCM	heart:	n/a
3	chr12:2163532-2163582	PANC-1	pancreas:	n/a
4	chr12:2163532-2163582	HEK293	kidney:	embryo
5	chr12:2163532-2163582	IMR90	lung:	fetal
6	chr12:2163608-2163658	HNPCEpiC	eye:	n/a
7	chr12:2163608-2163658	ProgFib	skin:	n/a
8	chr12:2163532-2163582	SKMC	muscle:	n/a
9	chr12:2163608-2163658	BE2_C	brain:	n/a
10	chr12:2163532-2163582	K562	blood:	n/a
11	chr12:2163608-2163658	HCF	heart:	n/a
12	chr12:2163532-2163582	U87	brain:	n/a
13	chr12:2163532-2163582	HepG2	liver:	n/a
14	chr12:2163608-2163658	ovcar-3	ovarian:	n/a
15	chr12:2163532-2163582	AG04449	skin:	fetal
16	chr12:2163608-2163658	Hela-S3	cervix:	n/a
17	chr12:2163608-2163658	HRE	kidney:	n/a
18	chr12:2163608-2163658	HCT-116	colon:	n/a
19	chr12:2163532-2163582	A549	lung:	n/a
20	chr12:2163532-2163582	NHBE	bronchial:	n/a
21	chr12:2163532-2163582	MCF10A-Er-Src	breast:	n/a
22	chr12:2163608-2163658	NHBE	bronchial:	n/a
23	chr12:2163532-2163582	SK-N-MC	brain:	n/a
24	chr12:2163532-2163582	Hela-S3	cervix:	n/a
25	chr12:2163532-2163582	HRE	kidney:	n/a
26	chr12:2163608-2163658	SK-N-SH_RA	brain:	n/a
27	chr12:2163532-2163582	GM06990	blood:	n/a
28	chr12:2163532-2163582	AoSMC	blood vessel:	n/a
29	chr12:2163532-2163582	SK-N-SH	brain:	n/a
30	chr12:2163532-2163582	SK-N-SH_RA	brain:	n/a
31	chr12:2163532-2163582	AG09319	gingival:	n/a
32	chr12:2163532-2163582	GM12892	blood:	n/a
33	chr12:2163608-2163658	NH-A	brain:	n/a
34	chr12:2163608-2163658	NT2-D1	testis:	n/a
35	chr12:2163608-2163658	T-47D	breast:	n/a
36	chr12:2163532-2163582	AG09309	skin:	n/a
37	chr12:2163608-2163658	GM19239	blood:	n/a
38	chr12:2163608-2163658	LNCaP	prostate:	n/a
39	chr12:2163608-2163658	NB4	blood:	n/a
40	chr12:2163608-2163658	GM06990	blood:	n/a
41	chr12:2163608-2163658	HCPEpiC	choroid plexus:	n/a
42	chr12:2163532-2163582	HRPEpiC	eye:	n/a
43	chr12:2163532-2163582	ovcar-3	ovarian:	n/a
44	chr12:2163608-2163658	HMEC	breast:	n/a
45	chr12:2163608-2163658	AG09309	skin:	n/a
46	chr12:2163608-2163658	AG04449	skin:	fetal
47	chr12:2163532-2163582	ECC-1	luminal epithelium:	n/a
48	chr12:2163608-2163658	RPTEC	kidney:	n/a
49	chr12:2163608-2163658	AG10803	skin:	n/a
50	chr12:2163608-2163658	HEK293	kidney:	embryo

No data

Variant related genes	Relation type
CACNA1C	TF binding region
CACNA1C	CpG island

Extended variants
information (count: 69 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565496062	chr12:2162636-2162637	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs138130246	chr12:2162650-2162651	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs373824100	chr12:2162703-2162704	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs536361695	chr12:2162727-2162728	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs372651429	chr12:2162736-2162737	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs376806516	chr12:2162746-2162747	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs371812517	chr12:2162813-2162814	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs377384951	chr12:2162825-2162826	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554339021	chr12:2162976-2162977	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs11062092	chr12:2163032-2163033	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536632940	chr12:2163045-2163046	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs74618594	chr12:2163147-2163148	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs139259148	chr12:2163274-2163275	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545677148	chr12:2163304-2163305	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540464785	chr12:2163352-2163353	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560684696	chr12:2163403-2163404	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs116824333	chr12:2163410-2163411	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192073978	chr12:2163420-2163421	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs561212523	chr12:2163431-2163432	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs531769130	chr12:2163437-2163438	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs143876435	chr12:2163448-2163449	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576951755	chr12:2163506-2163507	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs574573613	chr12:2163535-2163536	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs564886656	chr12:2163545-2163546	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs147272053	chr12:2163658-2163659	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs3794304	chr12:2163762-2163763	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs547253423	chr12:2163809-2163810	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs199532530	chr12:2163833-2163834	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs565559918	chr12:2163878-2163879	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs536037744	chr12:2163898-2163899	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs182672211	chr12:2163899-2163900	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs140844924	chr12:2163903-2163904	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs186889657	chr12:2163924-2163925	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558597409	chr12:2163947-2163948	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs576875043	chr12:2163983-2163984	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs539364966	chr12:2163991-2163992	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs554485779	chr12:2164010-2164011	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10848607	chr12:2164026-2164027	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs536790883	chr12:2164076-2164077	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548416379	chr12:2164094-2164095	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7303904	chr12:2164108-2164109	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190068505	chr12:2164110-2164111	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560467484	chr12:2164124-2164125	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs576465957	chr12:2164220-2164221	Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs543860647	chr12:2164230-2164231	Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs564955207	chr12:2164237-2164238	Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532345333	chr12:2164257-2164258	Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs547316466	chr12:2164261-2164262	Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs559207454	chr12:2164276-2164277	Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs182717946	chr12:2164291-2164292	Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Glaucoma	21310917	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Squamous cell cancer	19607727	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Mental retardation	17847001	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ovarian cancer	20844748	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:290 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:2160800-2164200	Active TSS	NHDF-Ad	bronchial
2	chr12:2160800-2166200	Active TSS	Brain Angular Gyrus	brain
3	chr12:2161000-2163400	Active TSS	Ovary	ovary
4	chr12:2161000-2164200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr12:2161000-2165800	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr12:2161000-2167000	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr12:2161200-2163000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr12:2161200-2163200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:2161200-2163400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr12:2161200-2163600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:2161200-2163800	Active TSS	Right Atrium	heart
12	chr12:2161200-2164000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
13	chr12:2161200-2164000	Bivalent/Poised TSS	Psoas Muscle	Psoas
14	chr12:2161200-2164200	Active TSS	Brain Substantia Nigra	brain
15	chr12:2161200-2164400	Bivalent/Poised TSS	Colonic Mucosa	Colon
16	chr12:2161200-2165200	Active TSS	Aorta	Aorta
17	chr12:2161200-2165600	Active TSS	Brain Hippocampus Middle	brain
18	chr12:2161200-2165800	Active TSS	Right Ventricle	heart
19	chr12:2161400-2162800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:2161400-2162800	Bivalent/Poised TSS	Esophagus	oesophagus
21	chr12:2161400-2163000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr12:2161400-2163600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
23	chr12:2161400-2163600	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr12:2161400-2163600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:2161400-2163600	Active TSS	Stomach Smooth Muscle	stomach
26	chr12:2161400-2164000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:2161400-2164200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
28	chr12:2161400-2164200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
29	chr12:2161400-2164200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
30	chr12:2161400-2164400	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr12:2161400-2164800	Active TSS	Left Ventricle	heart
32	chr12:2161400-2165400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr12:2161400-2165400	Active TSS	NHLF	lung
34	chr12:2161400-2165800	Active TSS	Colon Smooth Muscle	Colon
35	chr12:2161400-2166200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr12:2161600-2162600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr12:2161600-2162600	Bivalent/Poised TSS	Small Intestine	intestine
38	chr12:2161600-2163400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
39	chr12:2161600-2163400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr12:2161600-2163400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr12:2161600-2163400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr12:2161600-2163400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr12:2161600-2163400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr12:2161600-2163400	Active TSS	Fetal Brain Female	brain
45	chr12:2161600-2163400	Active TSS	HSMMtube	muscle
46	chr12:2161600-2163600	Active TSS	Fetal Kidney	kidney
47	chr12:2161600-2163600	Active TSS	Osteobl	bone
48	chr12:2161600-2164000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr12:2161600-2164200	Active TSS	Rectal Smooth Muscle	rectum
50	chr12:2161600-2165200	Bivalent/Poised TSS	Fetal Stomach	stomach

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